b'Next-generation sequencing advances reproductive health researchReproductive genetic research is fast becoming a desiredIon GeneStudio S5 systems and Ion Torrent NGS technology source of education for family planning, regardless ofcan help expand your menu of genetic testing services. maternal age or family ancestry. 80% of parents with aSample-to-result workflows for a broad offering of genetic tests child born with a recessive disorder are not aware of a familyand seamless scaling to throughput changes enable sample history of that condition, 1but labs implementing next-generationthroughput flexibility and the expansion of service offerings, sequencing (NGS) for inherited disease research arewith a single investment. Add intuitive Ion Torrent software, expanding our ability to identify and understand life-impactingfor simple analysis and reporting, to make NGS accessible genetic variants.to reproductive genetics researchers and specialists, NGS technology is revolutionizing the field of reproductiveregardless of their level of bioinformatics expertise. health with fast, accurate, and comprehensive detection of a broad spectrum of genetic variants known to cause inherited disorders. NGS interrogates hundreds to thousands more genes than preceding technologies. It enables research and analysis of various genomic features from a single sequencing run, including single-nucleotide variants (SNVs), insertiondeletion variants (indels), copy number variations (CNVs), and structural variants. Genetic findings for reproductive purposes guide decisions toward faster time to pregnancy and healthier futureoffspring.Prevalence of inherited genetic disorders fuels the need for reproductive genetics research~30%of all postnatal infant Limited genetic screeningKlinefelter syndromemortality in developed countries can miss70%of carriers ~1/650 male birthsis due to genetic disease (XXY: extra X chromosome)Gaucher disease Alpha-thalassemia Down syndrome~1/100,000 births ~15/10,000 births ~1/1,000 births(genes: GBA/GBAP1) (genes: HBA1/HBA2) (Trisomy 21: extra chromosome 21)Spinal muscular atrophy Tay-Sachs disease~1/10,000 births ~1/320,000 births(genes: SMN1/SMN2) (gene: HEXA)Cystic brosis Hereditary hearing loss 22 XY XX~1/3,000 Caucasian births ~1/1,000 births 21(gene: CTFR) (genes: GJB2/GJB6)2016 19 Duchenne muscular dystrophy17 ~1/3,500 male births15 (gene: DMD, X-linked)181 2 7 8 9 14 80%of parents of a child born 3 10 with a recessive genetic disorder are not aware of a family history of 6 11 13 that condition.4 5 Human chromosome pairs 121. Gao Z et al. (2015) An estimate of the average number of recessive lethal mutations carried by humans. Genetics 199:12431254.thermofisher.com/rhbyngs 3'